Canonical Allele Identifier: PA915992963
Gene: PDHA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 198412
ClinVar RCV Id: RCV000179743 RCV002470795
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001166925.1:p.Met248Val
CA247055
NM_001173454.2:c.742A>G